Canonical Allele Identifier: CA10300755
Gene: ALG12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415660
ClinVar RCV Id: RCV001933192 RCV003355651
dbSNP Id: rs778413165
ExAC: 22:50307385 C / T
gnomAD v2: 22-50307385-C-T
gnomAD v3: 22-49913737-C-T
gnomAD v4: 22-49913737-C-T
MyVariant Identifiers: chr22:g.50307385C>T (hg19) chr22:g.49913737C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.49913737C>T , CM000684.2:g.49913737C>T GRCh38
NC_000022.10:g.50307385C>T , CM000684.1:g.50307385C>T GRCh37
NC_000022.9:g.48693389C>T NCBI36
NG_008927.1:g.9722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330817.11:c.29G>A MANE Select ENSP00000333813.5:p.Arg10Gln
ENST00000330817.10:c.29G>A ENSP00000333813.5:p.Arg10Gln
NM_024105.3:c.29G>A NP_077010.1:p.Arg10Gln
XM_011530369.1:c.29G>A XP_011528671.1:p.Arg10Gln
XM_011530370.1:c.29G>A XP_011528672.1:p.Arg10Gln
XM_011530371.1:c.29G>A XP_011528673.1:p.Arg10Gln
XM_011530371.2:c.29G>A XP_011528673.1:p.Arg10Gln
XM_017028936.1:c.29G>A XP_016884425.1:p.Arg10Gln
XM_017028937.1:c.29G>A XP_016884426.1:p.Arg10Gln
NM_024105.4:c.29G>A MANE Select NP_077010.1:p.Arg10Gln
Search 100 bp 5'
Search 100 bp 3'